Amyotrophic lateral sclerosis (ALS) is a late-onset neurodegenerative disorder resulting from motor neuron death. Approximately 10% of cases are familial (FALS), typically with a dominant inheritance mode. Despite numerous advances in recent years (Kabashi, E. et al. Nature Genet. 40, 572-574 (2008); Sreedharan, J. et al. Science 319, 1668-1672 (2008); Kwiatkowski, T. J. Jr et al. Science 323, 1205-1208 (2009); Vance, C. et al. Science 323, 1208-1211 (2009); Johnson, J. O. et al. Neuron 68, 857-864 (2010); DeJesus-Hernandez, M. et al. Neuron 72, 245-256 (2011); Deng, H. X. et al. Nature 477, 211-215 (2011); Renton, A. E. et al. Neuron 72, 257-268 (2011); Gijselinck, I. et al. Lancet Neurol. 11, 54-65 (2012)), nearly 50% of FALS cases have unknown genetic aetiology.
A need exists for methods of detecting and treating ALS and FALS.